{
  "id": 12911,
  "label": "lissencephaly due to LIS1 mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011830",
  "properties": {
    "xrefs": [
      "DOID:0112237",
      "GARD:0016838",
      "MEDGEN:1657090",
      "OMIM:607432",
      "Orphanet:95232",
      "UMLS:C4749301"
    ],
    "synonyms": [
      "PAFAH1B1-related lissencephaly",
      "LIS1",
      "lissencephaly 1",
      "lissencephaly sequence, isolated",
      "lissencephaly, classic",
      "subcortical band heterotopia",
      "subcortical laminar heterotopia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16079,
      "label": "classic lissencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005049",
          "MEDGEN:98463",
          "NANDO:1201068",
          "NANDO:1201069",
          "Orphanet:102009",
          "UMLS:C0431375",
          "icd11.foundation:570001324"
        ],
        "synonyms": [
          "lissencephaly type 1",
          "ILS",
          "lissencephaly classic",
          "lissencephaly sequence isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015146"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16079,
      "label": "classic lissencephaly"
    }
  ]
}